Canonical Allele Identifier: CA127018068

Gene: FBN2

Linked Data

• dbSNP Id: rs531770798
• MyVariant Identifiers: chr5:g.127679922G>A (hg19) ; chr5:g.128344230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344230G>A , CM000667.2:g.128344230G>A	GRCh38
NC_000005.9:g.127679922G>A , CM000667.1:g.127679922G>A	GRCh37
NC_000005.8:g.127707821G>A	NCBI36
NG_008750.1:g.198814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3343+155C>T MANE Select	ENSP00000262464.4:n.3343+155C>T
ENST00000262464.8:c.3343+155C>T	ENSP00000262464.4:n.3343+155C>T
ENST00000508053.5:c.3343+155C>T	ENSP00000424571.1:n.3343+155C>T
ENST00000508989.5:c.3244+155C>T	ENSP00000425596.1:n.3244+155C>T
ENST00000619499.4:c.3340+155C>T	ENSP00000482132.1:n.3340+155C>T
NM_001999.3:c.3343+155C>T	NP_001990.2:n.3343+155C>T
XM_017009228.2:c.3190+155C>T	XP_016864717.1:n.3190+155C>T
NM_001999.4:c.3343+155C>T MANE Select	NP_001990.2:n.3343+155C>T